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M

Manju A. Kurian

Institute of Child Health

64H指数
304论文数
1.4W被引数
收录论文 153
发表时间
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Therapeutic activity of a hematopoietic stem cell-delivered cell-penetrating frataxin in Friedreich’s ataxia models在弗里德赖希共济失调模型中，由造血干细胞递送的穿膜法塔辛的疗效活性
errCell Reports Medicine
IF10.6
err2026-05-13
err0
errOAAI
errJeffrey Pido-Lopez; Shefta E Moula; Enas Shaban; Konstantinos Stamatiou; Bethan J. Critchley; Thomas E. Whittaker; Stina Svensson; Sara Anjomani-Virmouni; Ester Kalef-Ezra; Lucinda Carr; Jane Hassel; Adrian J. Thrasher; Manju A. Kurian; Ian A. Blair; Teerapat Rojsajjakul; Giorgia Santilli; Arturo Sala
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err收藏
Expanding the phenotypic spectrum associated with ZIC1 variants: a neurodevelopmental disorder with and without craniosynostosisZIC1变异相关表型谱的扩展：伴有和不伴有颅缝早闭的神经发育障碍
errGenetics in Medicine
IF6.2
err2026-04-22
err0
errOAAI
errLaura M. Watts; Michelle S.M. Chang; Elizabeth Lewis-Orr; Isaac S. Walton; Lisa Leinhos; Rebecca S. Tooze; Yang Pei; Eduardo Calpena; J. Heather Vedovato-dos-Santos; Dora Steel; Kimberley M. Reid; Manju A. Kurian; Shekeeb S. Mohammad; Vincent Cantagrel; Karine Siquier; Nathalie Boddaert; Marlene Rio; Moira Blyth; Alison Kraus; Fuad Al Mutairi
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err收藏
Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders: Defining Disease Progression and Clinical ProfilesGNAO1相关疾病中的纵向表型轨迹：定义疾病进展和临床特征
errAnnals of Neurology
IF7.7
err2026-04-17
err0
errOAAI
errJana Domínguez-Carral MD; Ana María Domínguez Cobo MD; Sol Balsells MSc; Anna Aguilar-Ros BS; Chu-Ting Chang MSc; William G. Ludlam PhD; Kathryn Yang MD; Katerina Bernardi MD; Micaela Chinigioli MD; Ainara Salazar-Villacorta MD; Veronica Di Pisa MD; Nuria Lamagrande-Casanova MD; Elena González-Alguacil MD; Beatriz De la Casa-Fages MD, PhD; Akihisa Okumura MD; Josefina Rodríguez MD; Ayush Agarwal MD; Daniela Muñoz-Chesta MD; Carolina Reynoso-Osnayo MD; Amy Lin MD; Brahim Tabarki MD; Jobaida Parvin MD; Adolfo Alberto Gallo MD; Andreia Forno MD; Fabian Maass MD; Johnny Montiel Blanco MD; Salomé Nasif MD; Elizabeth Jennions MD; Jorge Luis Ramón-Gómez MD; Helene Verhelst MD, PhD; Juan José Nieto Barceló MD; Dunja Čokolić Petrović MD; Luz Victoria García Ruiz MD; Christoph van Riesen MD; Paulo Rego Sousa MD; Maria del Pilar Massaro Sanchez MD; Husnea Ara Khan MD; Wejdan Hakami MD; Jennifer Friedman MD; Iván Espinoza-Quinteros MD; Monica Troncoso MD; Divyani Garg MD; Micaela Pauni MD; Hirokazu Kurahashi MD; María Concepción Miranda-Herrero MD, PhD; Anna Duat-Rodriguez MD; Luca Soliani MD; Manju A. Kurian MD, PhD; Angeles Schteinschnaider MD; Siddharth Srivastava MD; Darius Ebrahimi-Fakhari MD, PhD; Kirill A. Martemyanov PhD; Juan Darío Ortigoza-Escobar MD, PhD
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An in vivo and in vitro spatiotemporal profile of human midbrain development人类中脑发育的体内和体外时空分布
errNature Communications
IF15.7
err2026-02-03
err0
errOAAI
errDimitri Budinger; Pau Puigdevall; George T. Hall; Charlotte Roth; Theodoros Xenakis; Elena Marrosu; Julie Jerber; Alessandro Di Domenico; Francesca Picco; Helena Kilpinen; Sergi Castellano; Manju A. Kurian; Serena Barral
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Atypical GNAO1 variants in severe childhood speech disorders: clinical, genetic, and molecular insights非典型GNAO1变异在严重儿童语言障碍中的临床、遗传及分子洞察
errMolecular Autism
IF5.5
err2025-12-12
err0
errOAAI
errYonika A. Larasati; Moritz Thiel; Ainara Salazar-Villacorta; Alexey Koval; Manju A. Kurian; Anne Koy; Angela T. Morgan; Vladimir L. Katanaev; Gonzalo P. Solis
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Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency酪氨酸羟化酶（TH）缺乏症的诊断与治疗共识指南
errJournal of Inherited Metabolic Disease
IF3.8
err2025-11-10
err0
errOAAI
errMariya Sigatullina Bondarenko; Oya Kuseyri Hübschmann; Jan Kulhánek; Roser Pons; Toni S. Pearson; Kathrin Jeltsch; Ivana Badnjarevic; Tessa Wassenberg; Gabriella Horvath; Galina Stevanovic; Manju A. Kurian; Elisenda Cortès-Saladelafont; Agathe Roubertie; Vincenzo Leuzzi; Mariarita Bertoldi; Mario Mastrangelo; Birgit Assmann; THD Guidelines Working Group; Angeles Garcia-Cazorla; Thomas Opladen
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Genetic therapies for neurological diseases神经疾病的基因疗法
errPharmacological Reviews
IF17.3
err2025-10-03
err0
errOAAI
errAhad A. Rahim; Manju A. Kurian; Haiyan Zhou; Ross Ferguson; Sarah J. Tabrizi; Gabriele Lignani; Kristian Aquilina; Simon N. Waddington
err分享
err收藏
Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental StudyLandau Kleffner综合征的临床与分子遗传学特征：一项观察性队列与实验研究
errAnnals of Neurology
IF7.7
err2025-09-13
err0
errOAAI
errAdeline Ngoh PhD; Maria Clark MRCP; Rebecca Greenaway PhD; Xiumin Chen PhD; Kimberley M. Reid PhD; Katy Barwick PhD; Esther Meyer PhD; Dale Moulding PhD; Natalie Trump PhD; J. Helen Cross PhD; Sean D. Fraser BSc; Lachlan de Hayr PhD; Dimitri M. Kullmann PhD; Joseph W. Lynch PhD; Robert J. Harvey PhD; Manju A. Kurian PhD
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Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients
errBrain
IF11.7
err2025-08-14
err0
PREAI
errVicente Quiroz; Julian E Alecu; Umar Zubair; Katerina Bernardi; Zainab Zaman; Joshua Rong; Amy Tam; Avaneesh Kunta; Habibah A P Agianda; Nicole Battaglia; Henri J D Schmidt; Dario Resch; Noah Wyman; Lindsey M Vogt; Wafa Bani Uraba; Leonie F Becker; Kavitha Kothur; Deepak Gill; Bernardita Suarez; Javiera I Jofre; Carolina Arias; Claudia Castiglioni; Patricia Dumke da Silva Möller; Andre Felipe Pinto Duarte; Alexander Eggers-Lisboa; Loreto Ríos-Pohl; Magdalena Gonzalez-Ubilla; Chinmay Chaudhari; Ainara Salazar-Villacorta; Xiaojuan Tian; Lifang Dai; Changhong Ding; Mina Zamani; Pardis Nourbakhsh; Gholamreza Shariati; Tamara Pringsheim; Wei Kang Lim; Emanuele Bartolini; Maria Stamelou; Poonam Bhatia; Michael C Kruer; Soaham Desai; Mary Iype; Ján Necpál; David Crosiers; Hannah F Jones; Javier Ricardo Perez-Sanchez; Esra Demir Unal; Nuria Lopez-Ariztegui; Sruthi Kola; Wei-Sheng Lin; Alia Hassan Mansour; Chahnez Charfi Triki; Emilio Fernandez-Alvarez; Emmanuel Roze; Jitendra Kumar Sahu; Asif Doja; Nardo Nardocci; Davide Caputo; Anne Koy; Sanjay Bhate; Marios Kaliakatsos; Robert Robinson; Jane Hassell; Roser Pons; Alexander Munchau; Luca Soliani; Alonso Zea-Vera; Laura Tochen; Hugo Morales-Briceño; Russell C Dale; Alissa D’Gama; Tobias Loddenkemper; Phillip L Pearl; Shekeeb S Mohammad; Manju A Kurian; Carolina Gorodetsky; Juan Darío Ortigoza-Escobar; Luca Schierbaum; Kathryn Yang; Darius Ebrahimi-Fakhari
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An iPSC-derived neuronal model reveals manganese’s role in neuronal endocytosis, calcium flux and mitochondrial bioenergeticsiPSC来源的神经元模型揭示了锰在神经元内吞作用、钙离子流和线粒体生物能量学中的作用
erriScience
IF4.1
err2025-08-06
err0
errOAAI
errDimitri Budinger; Sharmin Alhaque; Ramón González-Méndez; Chris Dadswell; Katy Barwick; Arianna Ferrini; Charlotte Roth; Conor J. McCann; Karin Tuschl; Fatma Al Jasmi; Maha S. Zaki; Julien H. Park; Russell C. Dale; Shekeeb Mohammad; John Christodoulou; Dale Moulding; Michael R. Duchen; Serena Barral; Manju A. Kurian
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Development and Preliminary Validation of a Parkinsonism-Dystonia Scale for Infants and Young Children婴儿和幼儿帕金森病-肌张力障碍量表的开发与初步验证
errMovement Disorders
IF7.6
err2025-05-13
err0
errOAAI
errRoser Pons MD; Toni S. Pearson MD; Belen Perez-Dueñas MD; Angels Garcia-Cazorla MD; Manju A. Kurian MD; Zoi Dalivigka MD; Vasiliki Zouvelou MD; Chrysa Outsika PT; Eleftheria Kokkinou MD; Maria Sigatullina-Bondarenko MD; Alejandra Darling MD; Maria del Mar O'Callaghan MD; Robert Spaull MD; Dora B.D. Steel MD; Evdokia Salamou MD; Maria João Forjaz PhD; Carmen Rodriguez-Blazquez PhD
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Evolution of Movement Disorders in Patients With CLN2-Batten Disease Treated With Enzyme Replacement Therapy
errNEUROLOGY
IF8.5
err2024-08-13
err3
PREAI
errSpaull, Robert; Soo, Audrey K.; Batzios, Spyros; Footitt, Emma; Whiteley, Rebecca; Mink, Jonathan W.; Carr, Lucinda; Gissen, Paul; Kurian, Manju A.
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Severe Acute Motor Exacerbations (SAME) across Metabolic, Developmental and Genetic Disorders
errMOVEMENT DISORDERS
IF7.6
err2024-08-09
err0
PREAI
errCouto, Blas; Galosi, Serena; Steel, Dora; Kurian, Manju A.; Friedman, Jennifer; Gorodetsky, Carolina; Lang, Anthony E.
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Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (vol 3, 2024, 59)更正: 神经发育和神经退行性疾病Bryant-li-bhoj综合征的扩展表型谱与38个额外的个体 (第3卷，2024，59)
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-07-26
err0
errOAAI
errLayo-Carris, Dana E.; Lubin, Emily E.; Sangree, Annabel K.; Clark, Kelly J.; Durham, Emily L.; Gonzalez, Elizabeth M.; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Sola, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I.; Nowaczyk, M. J. M.; Hancarova, Miroslava; Bendova, Sarka; Prchalova, Darina; Sedlacek, Zdenek; Baxova, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K.; Longo, Nicola; Platzer, Konrad; Klockner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y.; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M.; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Synodinos, Joanne Traeger; Voudris, Konstantinos A.; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R. Frank; Meuwissen, Marije; Cocanougher, Benjamin T.; Taylor, Kathryn; Pizoli, Carolyn E.; Mcdonald, Marie T.; James, Philip; Roeder, Elizabeth R.; Littlejohn, Rebecca; Borja, Nicholas A.; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; Guyader, Gwenael L. E.; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J. K.; Bryant, Laura M.
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UK research priority setting for childhood neurological conditions
errDEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
IF4.3
err2024-07-16
err3
errOAAI
errCadwgan, Jill; Goodwin, Jane; Babcock, Barbara; Brick, Molly; Chin, Richard; Easton, Ava; Green, Ben; Hannan, Siobhan; Inward, Rhys P. D.; Kinsella, Suzannah; King, Callum; Kurian, Manju A.; Levine, Phillip; Mallick, Andrew; Parr, Jeremy; Partridge, Carol Anne; Amin, Sam; Lumsden, Dan; Cross, J. Helen; Lim, Ming J.
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Clinical, neuroimaging and genetic findings in Brazilian patients with neurodegeneration with brain iron accumulation
errPARKINSONISM & RELATED DISORDERS
IF3.4
err2024-06-01
err0
PREAI
errSalomao, Rubens Paulo Araujo; Filho, Flavio Moura Rezende; Borges, Vanderci; Kurian, Manju A.; Ferraz, Henrique Ballalai; Breedveld, Guido J.; Bonifati, Vincenzo; Barsottini, Orlando G.; Pedroso, Jose Luiz
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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-04-27
err3
errOAAI
errLayo-Carris, Dana E.; Lubin, Emily E.; Sangree, Annabel K.; Clark, Kelly J.; Durham, Emily L.; Gonzalez, Elizabeth M.; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Sola, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I.; Nowaczyk, M. J. M.; Hancarova, Miroslava; Bendova, Sarka; Prchalova, Darina; Sedlacek, Zdenek; Baxova, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K.; Longo, Nicola; Platzer, Konrad; Kloeckner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y.; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M.; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Synodinos, Joanne Traeger; Voudris, Konstantinos A.; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R. Frank; Meuwissen, Marije; Cocanougher, Benjamin T.; Taylor, Kathryn; Pizoli, Carolyn E.; McDonald, Marie T.; James, Philip; Roeder, Elizabeth R.; Littlejohn, Rebecca; Borja, Nicholas A.; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; Guyader, Gwenael L. E.; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J. K.; Bryant, Laura M.
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Molecular and Phenotypic Characterization of the RORB-Related Disorder
errNEUROLOGY
IF8.5
err2024-01-23
err1
PREAI
errGokce-Samar, Zeynep; Vetro, Annalisa; De Bellescize, Julitta; Pisano, Tiziana; Monteiro, Laloe; Penaud, Noemie; Korff, Christian M.; Fluss, Joel; Marini, Carla; Cesaroni, Elisabetta; Alvarez, Blanca Mercedes; Sanlaville, Damien; Chatron, Nicolas; Arzimanoglou, Alexis A.; Labalme, Audrey; Cuddapah, Vishnu A.; Ruggiero, Sarah M.; Lecoquierre, Francois; Nicolas, Gael; Marie, Guerrot Anne; Lebas, Axel; Testard, Herve O.; Helbig, Katherine L.; Ruiz, Anna; Ngoh, Adeline; Kurian, Manju A.; Reid, Kimberley; Spaull, Robert; Joset, Pascal; Ramantani, Georgia; Steindl, Katharina; Krenn, Martin; Gerstl, Lucia; Vieker, Silvia; Craiu, Dana; Pendziwiat, Manuela; Haldeman-Englert, Chad; Kanivets, Ilya; Romanova, Irina; Rajan, Deepa S.; Rosenfeld, Jill A.; Au, Margaret; Grand, Katheryn; Graham Jr, John M.; Isapof, Arnaud; Villeneuve, Nathalie; Smol, Thomas; Caumes, Roseline; Zacher, Pia; Neuser, Sonja; Tinschert, Sigrid; Platzer, Konrad; Bartolomaeus, Tobias; Mohnke, Ines; Radtke, Maximilian; Jamra, Rami Abou; Helbig, Ingo; Jansen, Floortje E.; Koop, Klaas; Rudolf, Gabrielle; Kury, Sebastien; Courchet, Julien; Guerrini, Renzo; Lesca, Gaetan
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Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy
errBRAIN
IF11.7
err2024-01-18
err2
errOAAI
errAbela, Lucia; Gianfrancesco, Lorita; Tagliatti, Erica; Rossignoli, Giada; Barwick, Katy; Zourray, Clara; Reid, Kimberley M.; Budinger, Dimitri; Ng, Joanne; Counsell, John; Simpson, Arlo; Pearson, Toni S.; Edvardson, Simon; Elpeleg, Orly; Brodsky, Frances M.; Lignani, Gabriele; Barral, Serena; Kurian, Manju A.
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Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2023-08-01
err12
errOAAI
errSanchis-Juan, Alba; Megy, Karyn; Stephens, Jonathan; Ricaurte, Camila Armirola; Dewhurst, Eleanor; Low, Kayyi; French, Courtney E.; Grozeva, Detelina; Stirrups, Kathleen; Erwood, Marie; McTague, Amy; Penkett, Christopher J.; Shamardina, Olga; Tuna, Salih; Daugherty, Louise C.; Gleadall, Nicholas; Duarte, Sofia T.; Hedrera-Fernandez, Antonio; Vogt, Julie; Ambegaonkar, Gautam; Chitre, Manali; Josifova, Dragana; Kurian, Manju A.; Parker, Alasdair; Rankin, Julia; Reid, Evan; Wakeling, Emma; Wassmer, Evangeline; Raymond, F. Lucy; Carss, Keren J.
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研究方向

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合作学者
合作期刊
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A
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